Multiple cutaneous and noncutaneous (mainly
gastrointestinal tract) venous malformations, which can result in discomfort
Unknown, but extremely rare. Men and women are equally
affected. Occurs in all races, although caucasians seem to be more frequently
Most cases are sporadic, but autosomal
dominant inheritance has been described.
Hemangiomas typically occur on the trunk, upper
extremities, perineum, and in the gastrointestinal tract (from mouth to anus), but
they can principally occur everywhere in the body
(oral cavity hemangiomas may occur in up to 60% of patients).
They are associated with
nocturnal pain and hyperhydrosis in the affected skin areas.
The rubber-like hemangiomas may be tender but
usually are easily compressible and refill promptly after compression. They
are highly variable in size (from a few millimeters to many centimeters),
color (from red to black), morphology (from flat to elevated to pedunculated
nodules), and number (from a few to hundreds). Bleeding from the skin
lesions is rare in the absence of trauma; however, anemia (iron deficiency
anemia) and death as a result of gastrointestinal bleeding may occur,
although most commonly the bleeding is slow, chronic, and occult.
Intussusception, volvulus, and bowel infarction have been described. Lesions
involving the bones and joints are less common, but can cause profound discomfort
and deformity, loss of function, and spontaneous fractures. Central nervous
system involvement (seizures, ataxia, dementia), although rare, can be fatal (hemorrhage). Cerebellar
medulloblastoma has been associated with this syndrome. Pregnancy seems to have
the potential to exacerbate bleeding from gastrointestinal lesions.
Check hemoglobin. Assess extremities
for hemangiomas prior to obtaining intravascular access or performing peripheral
regional anesthesia and evaluate the airway for
presence of hemangiomas that may obstruct the view or bleed during airway
Anticipate the need for transfusion.
Perform gentle direct laryngoscopy and tracheal intubation, especially in
the presence of oral hemangiomas. Avoid esophageal instrumentation
(nasogastric or orogastric tubes) in the presence of gastrointestinal
No known pharmacological
Klippel-Trènaunay Syndrome: Form of vascular malformation
with congenital aplasia and/or dysplasia of specific parts of the vascular
system in association with bony and soft tissue hypertrophy.
Maffucci Syndrome: Congenital disorder characterized by
dyschondroplasia of one or more limbs, multiple enchondromas, and soft
Venous Lakes: Lesions present as dark blue to violaceous, easily
compressible papules caused by ectasia of venules. They predominantly occur
on chronically sun-exposed skin (most often located on the ears or lips of
elderly patients). The lesions are harmless and have no clinical
significance; however, they play an important role in the differential
diagnosis of more severe lesions with a potentially similar aspect
(melanoma, basalioma, or squamous cell carcinoma), as thrombosis is
frequently present in these lesions.
Andersen JM: Blue rubber bleb nevus syndrome. Curr Treat Options Gastroenterol